Mutation details:

Protein level identifier (NP_060575):

p.Leu123Alafs*7

cDNA level identifier (NM_018105):

c.363_366dupGCCT

Gene level identifier:

g.5085_5088dupGCCT

Reference, alternative allele:

AGGC, AGGCAGGC

Genomic location hg(19)

8:42693381 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).